Canonical Allele Identifier: CA347202

Gene: GFAP

Linked Data

• ClinVar Variation Id: 190344
• ClinVar RCV Id: RCV000192135 ; RCV000517981
• dbSNP Id: rs58064122
• MyVariant Identifiers: chr17:g.42990702G>C (hg19) ; chr17:g.44913334G>C (hg38)
• PubMed: PMID:20301351 ; PMID:21940697 ; PMID:24306001

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44913334G>C , CM000679.2:g.44913334G>C	GRCh38
NC_000017.10:g.42990702G>C , CM000679.1:g.42990702G>C	GRCh37
NC_000017.9:g.40346228G>C	NCBI36
NG_008401.1:g.7213C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000253408.11:c.715C>G	ENSP00000253408.5:p.Arg239Gly
ENST00000435360.8:c.715C>G	ENSP00000403962.1:p.Arg239Gly
ENST00000253408.10:c.715C>G	ENSP00000253408.5:p.Arg239Gly
ENST00000435360.7:c.715C>G	ENSP00000403962.1:p.Arg239Gly
ENST00000586127.6:n.1244C>G
ENST00000586793.6:c.715C>G	ENSP00000468500.2:p.Arg239Gly
ENST00000587997.6:n.191C>G
ENST00000588735.3:c.715C>G MANE Select	ENSP00000466598.2:p.Arg239Gly
ENST00000591327.2:n.1869C>G
ENST00000592320.6:c.618+394C>G	ENSP00000465320.1:n.618+394C>G
ENST00000638281.1:c.715C>G	ENSP00000491088.1:p.Arg239Gly
ENST00000638618.1:c.370C>G	ENSP00000492832.1:p.Arg124Gly
ENST00000639277.1:c.715C>G	ENSP00000492432.1:p.Arg239Gly
ENST00000640552.1:n.729C>G
ENST00000253408.9:c.715C>G	ENSP00000253408.4:p.Arg239Gly
ENST00000376990.8:c.*114C>G	ENSP00000366189.4:n.*114C>G
ENST00000435360.6:c.715C>G	ENSP00000403962.1:p.Arg239Gly
ENST00000585728.5:c.*359C>G	ENSP00000465208.1:n.*359C>G
ENST00000586793.5:c.715C>G	ENSP00000468500.1:p.Arg239Gly
ENST00000587997.5:c.191C>G
ENST00000588316.1:c.619C>G	ENSP00000465629.1:p.Arg207Gly
ENST00000588735.1:c.82+2071C>G	ENSP00000466598.1:n.82+2071C>G
ENST00000588957.5:c.-18C>G	ENSP00000465565.1:n.-18C>G
ENST00000590922.1:n.365C>G
ENST00000592320.5:c.618+394C>G	ENSP00000465320.1:n.618+394C>G
NM_001131019.2:c.715C>G	NP_001124491.1:p.Arg239Gly
NM_001242376.1:c.715C>G	NP_001229305.1:p.Arg239Gly
NM_002055.4:c.715C>G	NP_002046.1:p.Arg239Gly
NM_001363846.1:c.715C>G	NP_001350775.1:p.Arg239Gly
XM_024450690.1:c.919C>G	XP_024306458.1:p.Arg307Gly
XM_024450691.1:c.919C>G	XP_024306459.1:p.Arg307Gly
XM_024450692.1:c.919C>G	XP_024306460.1:p.Arg307Gly
XM_024450693.1:c.919C>G	XP_024306461.1:p.Arg307Gly
NM_002055.5:c.715C>G MANE Select	NP_002046.1:p.Arg239Gly
NM_001131019.3:c.715C>G	NP_001124491.1:p.Arg239Gly
NM_001242376.2:c.715C>G	NP_001229305.1:p.Arg239Gly
NM_001242376.3:c.715C>G	NP_001229305.1:p.Arg239Gly
NM_001363846.2:c.715C>G	NP_001350775.1:p.Arg239Gly